Výsledky vyhledávání - Nouriya Al‐Sannaa

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  1. 1
    Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

    Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008 Autor Hissa Moammar, George Cheriyan, Revi P. Mathew, Nouriya Al‐Sannaa

    Vydáno 2010
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  2. 2
    Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

    Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships Autor Nouriya Al‐Sannaa, Luisa Bay, Deborah Barbouth, Youssef Benhayoun, Cyril Goizet, Norberto Guelbert, Simon Jones, Sandra Obikawa Kyosen, Ana María Martins, Chanika Phornphutkul, Celia Reig, Rebecca Pleat, Shari Fallet, Iva Ivanovska Holder

    Vydáno 2015
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  3. 3
    AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

    AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability Autor Aline Bréchet, Rebecca Buchert, Jochen Schwenk, Sami Boudkkazi, Gerd Zolles, Karine Siquier-Pernet, Irene Schaber, Wolfgang Bildl, Abdelkrim Saadi, Christine Bôle‐Feysot, Patrick Nitschké, André Reis, Heinrich Sticht, Nouriya Al‐Sannaa, Arndt Rolfs, Ákos Kulik, Uwe Schulte, Laurence Colleaux, Rami Abou Jamra, Bernd Fakler

    Vydáno 2017
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  4. 4
    Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

    Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization Autor Stephen R.F. Twigg, Deborah Lloyd, Dagan Jenkins, Nursel E. Elçioglu, C.D.O. Cooper, Nouriya Al‐Sannaa, Alı Annagür, Gabriele Gillessen‐Kaesbach, Irina Hüning, Samantha J.L. Knight, Judith A. Goodship, Bernard Keavney, Philip L. Beales, O. Gileadi, Simon J. McGowan, Andrew O.M. Wilkie

    Vydáno 2012
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  5. 5
    Clinical exome sequencing: results from 2819 samples reflecting 1000 families

    Clinical exome sequencing: results from 2819 samples reflecting 1000 families Autor Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Maximilian E. R. Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, José María García-Aznar, Martin Werber, Oliver Brandau, María Calvo, Caterina Baldi, Karen Wessel, Shivendra Kishore, Nahid Nahavandi, Wafaa Eyaid, Muhammad T. Al Rifai, Ahmed Al‐Rumayyan, Waleed Altwaijri, Ali Alothaim, Amal Alhashem, Nouriya Al‐Sannaa, Mohammed Al Balwi, Majid Alfadhel, Arndt Rolfs, Rami Abou Jamra

    Vydáno 2016
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  6. 6
    De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

    De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders Autor Marija Dulovic‐Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, Geir J. Braathen, Nataliya Di Donato, Elisa Rahikkala, Skadi Beblo, Martin Werber, Victor Krajka, Øyvind L. Busk, H. Baumann, Nouriya Al‐Sannaa, Frauke Hinrichs, Rabea Affan, N. Navot, Mohammed Al Balwi, Gabriela Oprea, Øystein L. Holla, Maximilian E. R. Weiss, Rami Abou Jamra, Anne‐Karin Kahlert, Shivendra Kishore, Kristian Tveten, Melissa Vos, Arndt Rolfs, Katja Lohmann

    Vydáno 2019
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  7. 7
    A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

    A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion Autor Guoliang Chai, Emmanuelle Szenker‐Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo, Trevor G Marshall, Nan Jiang, Xiaoxu Yang, Jennifer McEvoy‐Venneri, Valentina Stanley, Paula Anzenberg, Nhi Lang, Vanessa Wazny, Jia Yu, David M. Virshup, Rie Nygaard, Filippo Mancia, Rijad Merdzanic, Maria Betânia Pereira Toralles, Paula M.L. Pitanga, Ratna Dua Puri, Rebecca Hernan, Wendy K. Chung, Aida M. Bertoli‐Avella, Nouriya Al‐Sannaa, Maha S. Zaki, Karl Willert, Bruno Reversade, Joseph G. Gleeson

    Vydáno 2021
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  8. 8
    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort Autor Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane, María Eugenia Rocha, Pilar Guatibonza, Catarina Pereira, María Calvo, Natalia Herrera-Ordonez, Monica Segura-Castel, Dan Diego‐Álvarez, Michal Zawada, Krishna Kumar Kandaswamy, Martin Werber, Omid Paknia, Susan Zielske, Dimitar Ugrinovski, Gitte Warnack, Kapil Kampe, Marius‐Ionuţ Iuraşcu, Claudia Cozma, Florian Vogel, Amal Alhashem, Jozef Hertecant, Aisha Al‐Shamsi, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Ahmed Alfares, Mohammed Al Balwi, Majid Alfadhel, Nouriya Al‐Sannaa, William Reardon, Yasemin Alanay, Arndt Rolfs, Peter Bauer

    Vydáno 2020
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  9. 9
    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders Autor Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan, Natalia Ordonez‐Herrera, Kornélia Tripolszki, Christian Beetz, María Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al‐Ali, Vasiliki Karageorgou, Oana Moldovan, Patrícia Dias, Amal Alhashem, Brahim Tabarki, Mohammed Al Balwi, Abdulrahman Alswaid, Zuhair N. Al‐Hassnan, Malak Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al‐Gazali, Huma Arshad Cheema, Maha S. Zaki, Irina Hüning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S. Alkuraya, Nouriya Al‐Sannaa, Aisha Al‐Shamsi, Najim Ameziane, Arndt Rolfs, Peter Bauer

    Vydáno 2021
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  10. 10
    Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

    Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) Autor Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht, Aida I. Al Aqeel, Amal Alhashem, Nouriya Al‐Sannaa, Maissa Bah, Katharina Bröhl, Christel Depienne, Nathalie Dorison, Diane Doummar, Nadja Ehmke, Hasnaa M. Elbendary, Svetlana Gorokhova, Delphine Héron, Denise Horn, Kiely N. James, Boris Keren, Alma Kuechler, Samira Ismail, Mahmoud Y. Issa, Isabelle Marey, M. Mayer, Jennifer McEvoy‐Venneri, André Mégarbané, Cyril Mignot, Sarar Mohamed, Caroline Nava, Nicole Philip, C. Mignon Ravix, Arndt Rolfs, Abdelrahim A. Sadek, Lara Segebrecht, Valentina Stanley, Camille Trautman, Stéphanie Valence, Laurent Villard, Thomas Wieland, Hartmut Engels, Tim M. Strom, Maha S. Zaki, Joseph G. Gleeson, Hermann‐Josef Lüdecke, Peter Bauer, Dagmar Wieczorek

    Vydáno 2018
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  11. 11
    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling Autor Yuh‐Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T. Pagnamenta, Reza Maroofian, Christian Beetz, H. van Duyvenvoorde, Maria Lisa Dentici, Peter Lauffer, Sadeq Vallian, Andrea Ciolfi, Simone Pizzi, Peter Bauer, Nana‐Maria Grüning, Emanuele Bellacchio, Andrea Del Fattore, Stefania Petrini, Ranad Shaheen, Dov Tiosano, Rana Halloun, Ben Pode‐Shakked, Hatice Mutlu Albayrak, Emregül Işık, Jan M. Wit, Marcus Dittrich, Bruna Lucheze Freire, Débora Romeo Bertola, Alexander A.L. Jorge, Ortal Barel, Ataf Sabir, Amal M.J. Al Tenaiji, Sulaima Mhd Taji, Nouriya Al‐Sannaa, Hind Y. Al-Abdulwahed, M. Cristina Digilio, Melita Irving, Yair Anikster, Gandham SriLakshmi Bhavani, Katta M. Girisha, Thomas Haaf, Jenny C. Taylor, Bruno Dallapiccola, Fowzan S. Alkuraya, Ruey‐Bing Yang, Marco Tartaglia

    Vydáno 2020
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  12. 12
    Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

    Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis Autor Ricardo Moreno Traspas, Tze Shin Teoh, Pui‐Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Al‐Sannaa, Eissa Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Ping Ping Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hülya Kayserili, Kimberly A. Kripps, Shareef Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Lazari Sandoval, Elisa de Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr Alsaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez‐Herrera, Suliman Khan, Peter Bauer, Benjamin Cogné, Aida M. Bertoli‐Avella, Marie Vincent, Katta M. Girisha, Bruno Reversade

    Vydáno 2022
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  13. 13
    Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

    Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families Autor Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al‐Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera J. Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al‐Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad‐Hani Temsah, Maha Tulbah, Rasha Aljelaify, Saad AlShahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al‐Hassnan, Ghada M. H. Abdel‐Salam, Nouriya Al‐Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al‐Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman Aldeeri, Dorota Monies, Fowzan S. Alkuraya

    Vydáno 2014
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  14. 14
    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, a... Autor Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sérgio B. Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko Itō, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal Waill Saadi, Maha S. Zaki, Arjan Bouman, Tahsin Stefan Barakat, David Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh‐Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Al‐Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C. Robson, Zeynep Coban‐Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas Alex Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H. Elsea, Davut Pehli̇van, Dana Marafi, James R. Lupski

    Vydáno 2022
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